A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760030



Internal ID9635489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:48216841..48371581hg38UCSC Ensembl
Innerchr15:48509038..48663778hg19UCSC Ensembl
Innerchr15:46296330..46451070hg18UCSC Ensembl
Innerchr15:46296330..46451070hg17UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38154741
hg19154741
hg18154741
hg17154741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758381
SamplesNA18540
Known GenesDUT, SLC12A1
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2760030
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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